Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta
Crossref DOI link: https://doi.org/10.1186/s40246-015-0028-0
Published Online: 2015-05-10
Published Print: 2015-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Maasalu, Katre
Nikopensius, Tiit
Kõks, Sulev
Nõukas, Margit
Kals, Mart
Prans, Ele
Zhytnik, Lidiia
Metspalu, Andres
Märtson, Aare
License valid from 2015-05-10
Article History
Received: 10 February 2015
Accepted: 30 April 2015
First Online: 10 May 2015